Canonical Allele Identifier: CA242728

Gene: USH2A USH2A-AS2

Linked Data

• ClinVar Variation Id: 195997
• ClinVar RCV Id: RCV000176700 ; RCV001273049
• dbSNP Id: rs147371835
• ExAC: 1:216256831 G / A
• gnomAD v2: 1-216256831-G-A
• gnomAD v3: 1-216083489-G-A
• gnomAD v4: 1-216083489-G-A
• COSMIC: COSM3483558 ; COSM3483559
• MyVariant Identifiers: chr1:g.216256831G>A (hg19) ; chr1:g.216083489G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216083489G>A , CM000663.2:g.216083489G>A	GRCh38
NC_000001.10:g.216256831G>A , CM000663.1:g.216256831G>A	GRCh37
NC_000001.9:g.214323454G>A	NCBI36
NG_009497.1:g.344908C>T
NG_009497.2:g.344960C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5265C>T (USH2A) MANE Select	ENSP00000305941.3:p.Phe1755=
ENST00000674083.1:c.5265C>T (USH2A)	ENSP00000501296.1:p.Phe1755=
ENST00000307340.7:c.5265C>T (USH2A)	ENSP00000305941.3:p.Phe1755=
ENST00000463147.1:n.509C>T (USH2A)
ENST00000481786.1:n.507C>T (USH2A)
NM_206933.2:c.5265C>T (USH2A)	NP_996816.2:p.Phe1755=
NR_125992.1:n.266-3233G>A (USH2A-AS2)
NR_125993.1:n.137-3233G>A (USH2A-AS2)
NM_206933.3:c.5265C>T (USH2A)	NP_996816.2:p.Phe1755=
NM_206933.4:c.5265C>T (USH2A) MANE Select	NP_996816.3:p.Phe1755=